A12V (p.Ala12Val) variant of MBP (Myelin basic protein)
A12V (p.Ala12Val) in MBP (Myelin basic protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- rs747162845
- NCI-TCGA Cosmic COSV6355
- cosmic curated COSV63557
- ExAC rs747162845
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.09
- CADD 9.87
- PolyPhen-2 0.00
- SIFT 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available